Global Variome shared LOVD

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Phenotype #0000333612 Individual ID 00444359 Associated disease RP Diagnosis/Initial retinitis pigmentosa Diagnosis/Definite RDCCAS Phenotype details see paper; ..., retinitis pigmentosa, poor vision from childhood, night blindness, restricted visual fields; severe childhood-onset acne vulgaris Inheritance Familial, autosomal recessive Age/Examination 49y (49 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-12-22 22:53:12 +01:00 (CET) Date last edited N/A

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